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1
Mutations in the amiloride‐sensitive epithelial sodium channel in patients with cystic fibrosis‐like disease
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Mutations in the amiloride‐sensitive epithelial sodium channel in patients with cystic fibrosis‐like disease

Azad, Abul Kalam ; Rauh, Robert ; Vermeulen, François ; Jaspers, Martine ; Korbmacher, Judit ; Boissier, Brigitte ; Bassinet, Laurence ; Fichou, Yann ; Georges, Marie des ; Stanke, Frauke ; De Boeck, Kris ; Dupont, Lieven ; Balaščáková, Miroslava ; Hjelte, Lena ; Lebecque, Patrick ; Radojkovic, Dragica ; Castellani, Carlo ; Schwartz, Marianne ; Stuhrmann, Manfred ; Schwarz, Martin ; Skalicka, Veronika ; de Monestrol, Isabelle ; Girodon, Emmanuelle ; Férec, Claude ; Claustres, Mireille ; Tümmler, Burkhard ; Cassiman, Jean‐Jacques ; Korbmacher, Christoph ; Cuppens, Harry

Human mutation, 2009-07, Vol.30 (7), p.1093-1103 [Peer Reviewed Journal]

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2
Mutation analysis in adenylosuccinate lyase deficiency: Eight novel mutations in the re‐evaluated full ADSL coding sequence
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Mutation analysis in adenylosuccinate lyase deficiency: Eight novel mutations in the re‐evaluated full ADSL coding sequence

Marie, Sandrine ; Cuppens, Harry ; Heuterspreute, Michel ; Jaspers, Martine ; Tola, Eduardo Zambrano ; Gu, Xiao Xiao ; Legius, Eric ; Vincent, M.‐Françoise ; Jaeken, Jaak ; Cassiman, Jean‐Jacques ; Van den Berghe, Georges

Human mutation, 1999, Vol.13 (3), p.197-202 [Peer Reviewed Journal]

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3
Fluorescent chemical cleavage of mismatches for efficient screening of the factor VIII gene
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Fluorescent chemical cleavage of mismatches for efficient screening of the factor VIII gene

Freson, Kathleen ; Peerlinck, Kathelijne ; Aguirre, Tania ; Arnout, Jef ; Vermylen, Jozef ; Cassiman, Jean‐Jacques ; Matthijs, Gert

Human mutation, 1998, Vol.11 (6), p.470-479 [Peer Reviewed Journal]

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4
Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome
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Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome

Wu, Rina ; Legius, Eric ; Robberecht, Wim ; Dumoulin, Monique ; Cassiman, Jean‐Jacques ; Fryns, Jean‐Pierre

Human mutation, 1996, Vol.8 (1), p.51-56 [Peer Reviewed Journal]

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5
Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma
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Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma

Blackburn, Patrick R ; Hickey, Raymond D ; Nace, Rebecca A ; Giama, Nasra H ; Kraft, Daniel L ; Bordner, Andrew J ; Chaiteerakij, Roongruedee ; McCormick, Jennifer B ; Radulovic, Maja ; Graham, Rondell P ; Torbenson, Michael S ; Tortorelli, Silvia ; Scott, C. Ronald ; Lindor, Noralane M ; Milliner, Dawn S ; Oglesbee, Devin ; Al‐Qabandi, Wafa'a ; Grompe, Markus ; Gavrilov, Dimitar K ; El‐Youssef, Mounif ; Clark, Karl J ; Atwal, Paldeep S ; Roberts, Lewis R ; Klee, Eric W ; Ekker, Stephen C

Human mutation, 2016-10, Vol.37 (10), p.1097-1105 [Peer Reviewed Journal]

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6
Differential Dimerization of Variants Linked to Enhanced S‐Cone Sensitivity Syndrome (ESCS) Located in the NR2E3 Ligand‐Binding Domain
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Differential Dimerization of Variants Linked to Enhanced S‐Cone Sensitivity Syndrome (ESCS) Located in the NR2E3 Ligand‐Binding Domain

Alpen, Désirée ; Tran, Hoai Viet ; Guex, Nicolas ; Venturini, Giulia ; Munier, Francis L ; Schorderet, Daniel F ; Haider, Neena B ; Escher, Pascal

Human mutation, 2015-06, Vol.36 (6), p.599-610 [Peer Reviewed Journal]

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7
Practical guidelines addressing ethical issues pertaining to the curation of human locus‐specific variation databases (LSDBs)
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Practical guidelines addressing ethical issues pertaining to the curation of human locus‐specific variation databases (LSDBs)

Povey, Sue ; Al Aqeel, Aida I ; Cambon‐Thomsen, Anne ; Dalgleish, Raymond ; den Dunnen, Johan T ; Firth, Helen V ; Greenblatt, Marc S ; Barash, Carol Isaacson ; Parker, Michael ; Patrinos, George P ; Savige, Judith ; Sobrido, Maria‐Jesus ; Winship, Ingrid ; Cotton, Richard G.H

Human mutation, 2010-11, Vol.31 (11), p.1179-1184 [Peer Reviewed Journal]

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8
Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma: HUMAN MUTATION
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Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma: HUMAN MUTATION

Blackburn, Patrick R ; Hickey, Raymond D ; Nace, Rebecca A ; Giama, Nasra H ; Kraft, Daniel L ; Bordner, Andrew J ; Chaiteerakij, Roongruedee ; McCormick, Jennifer B ; Radulovic, Maja ; Graham, Rondell P ; Torbenson, Michael S ; Tortorelli, Silvia ; Scott, C. Ronald ; Lindor, Noralane M ; Milliner, Dawn S ; Oglesbee, Devin ; Al-Qabandi, Wafa'a ; Grompe, Markus ; Gavrilov, Dimitar K ; El-Youssef, Mounif ; Clark, Karl J ; Atwal, Paldeep S ; Roberts, Lewis R ; Klee, Eric W ; Ekker, Stephen C

Human mutation, 2016-10, Vol.37 (10), p.1097-1105 [Peer Reviewed Journal]

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9
Evaluation and use of a synthetic quality control material, included in the European external quality assessment scheme for cystic fibrosis
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Evaluation and use of a synthetic quality control material, included in the European external quality assessment scheme for cystic fibrosis

Berwouts, Sarah ; Gordon, Joan T ; Rundell, Clark A ; Barton, David E ; Dequeker, Elisabeth

Human mutation, 2008-08, Vol.29 (8), p.1063-1070 [Peer Reviewed Journal]

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10
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants
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SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants

Zampieri, Stefania ; Filocamo, Mirella ; Pianta, Annalisa ; Lualdi, Susanna ; Gort, Laura ; Coll, Maria Jose ; Sinnott, Richard ; Geberhiwot, Tarekegn ; Bembi, Bruno ; Dardis, Andrea

Human mutation, 2016-02, Vol.37 (2), p.139-147 [Peer Reviewed Journal]

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